Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"

scientific article

Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3" is …
instance of (P31):
scholarly articleQ13442814

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P932PMC publication ID1915069
P698PubMed publication ID8651291

P2093author name stringY Zhao
H Zhao
L M Austin
R A Sturm
V J Hearing
R A King
W S Oetting
J J Nordlund
R E Boissy
S C Wildenberg
Y L Boissy
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High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complexQ28245542
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The human cation-independent mannose 6-phosphate receptor. Cloning and sequence of the full-length cDNA and expression of functional receptor in COS cellsQ28285673
Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pterQ28303173
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The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codonQ29618647
A cDNA encoding tyrosinase-related protein maps to the brown locus in mouseQ33581971
A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed DOPAchrome tautomeraseQ33937361
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Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinismQ35196703
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Human oculocutaneous albinism caused by single base insertion in the tyrosinase geneQ35223876
Mammalian tyrosinase-related protein-1 is recognized by autoantibodies from vitiliginous Smyth chickens. An avian model for human vitiligoQ35798261
Regulation of tyrosinase in human melanocytes grown in cultureQ36207702
Cloning and expression of cDNA encoding mouse tyrosinaseQ36424864
Premature translation termination mediates triosephosphate isomerase mRNA degradationQ36783476
Regulation of mRNA turnover in eukaryotic cellsQ37004798
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinismQ37532574
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Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis.Q37639625
Molecular and developmental genetics of mouse coat colorQ40613974
Regulation of mRNA stability in developmentQ40613991
Retroviral infection with human tyrosinase-related protein-1 (TRP-1) cDNA upregulates tyrosinase activity and melanin synthesis in a TRP-1-deficient melanoma cell lineQ41211702
Distinguishing between the catalytic potential and apparent expression of tyrosinase activitiesQ41415125
On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes.Q41456445
Human TRP-1 has tyrosine hydroxylase but no dopa oxidase activityQ41464828
The tyrosinase gene family--interactions of melanogenic proteins to regulate melanogenesisQ41504813
Pigmentation-associated glycoprotein of human melanomas and melanocytes: definition with a mouse monoclonal antibodyQ42527985
Unraveling the melanocyte.Q43147197
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinismQ44183968
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophiesQ46135180
Albinism in Nigeria with delineation of new recessive oculocutaneous type.Q46945844
Comparative analysis of melanins and melanosomes produced by various coat color mutants.Q50519706
Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.Q50522916
Functional Properties of Cloned Melanogenic ProteinsQ50535590
Tyrosinases from two different loci are expressed by normal and by transformed melanocytes.Q50545838
Specific identification of an authentic clone for mammalian tyrosinase.Q50559057
Anti-T4-tyrosinase monoclonal antibodies--specific markers for pigmented melanocytes.Q50582309
Segregation analysis of brown oculocutaneous albinism.Q50698441
Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization.Q50913553
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectoculocutaneous albinismQ2017741
P304page(s)1145-56
P577publication date1996-06-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"
P478volume58

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